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作者

Liu, Guiyou. Department of Neurology, Affiliated Hospital of Taishan Medical College, Key Laboratory of Cerebral Microcirculation in Universities of Shandong, Taian, China Sun, Jing-yi. Wonju Severance Christian Hospital, Yonsei University, Wonju College of Medicine, Wonju, Republic of Korea Xu, Meiling. Department of Neurology, Fourth Affiliated Hospital, Harbin Medical University, Harbin, China Yang, Xiao-yi. Department of Neurology, Affiliated Hospital of Taishan Medical College, Key Laboratory of Cerebral Microcirculation in Universities of Shandong, Taian, China, xyyang@tsmc.edu.cn Sun, Bao-liang. Department of Neurology, Affiliated Hospital of Taishan Medical College, Key Laboratory of Cerebral Microcirculation in Universities of Shandong, Taian, China, blsun88@163.com

作者单位

com Sun, Bao-liang, Affiliated Hospital of Taishan Medical University, Shandong, Taian, China, 271000, blsun88@16

刊名

Journal of Alzheimer's Disease

年份

2017

卷号

Vol.58 No.4

页码

1121-1128

ISSN

1387-2877;1875-8908

关键词

Alzheimer’s disease genome-wide association studies SORL1

摘要

A recent study sequenced the full coding region of SORL1 in 1,255 early-onset Alzheimer’s disease cases and 1,938 control individuals, and investigated the contribution of genetic variability in SORL1 to EOAD risk in a European cohort. This study identified six common variants and five low frequency variants in the SORL1 coding sequence. However, none of these 11 variants was significantly associated with EOAD risk after adjusting for multiple testing. We consider whether these 11 SORL1 variant...更多

A recent study sequenced the full coding region of SORL1 in 1,255 early-onset Alzheimer’s disease cases and 1,938 control individuals, and investigated the contribution of genetic variability in SORL1 to EOAD risk in a European cohort. This study identified six common variants and five low frequency variants in the SORL1 coding sequence. However, none of these 11 variants was significantly associated with EOAD risk after adjusting for multiple testing. We consider whether these 11 SORL1 variants identified in European EOAD contribute to late-onset Alzheimer’s disease risk in individuals of European ancestry. Here, we investigated these 11 SORL1 variants identified in European EOAD and LOAD risk in individuals of European ancestry using a large-scale LOAD GWAS. Our results indicate that three genetic variants rs2070045, rs2276412, and rs17125548 as well as their tagged genetic variants contribute to LOAD risk in European population. We further investigate whether these variants could affect SORL1 expression using multiple expression quantitative trait loci datasets. Our findings suggest that three genetic variants rs2070045, rs1699102, and rs3824968 could significantly regulate SORL1 expression in human brain tissues. We believe that our findings further provide important supplementary information about the involvement of the SORL1 variants in LOAD risk.收起

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